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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
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The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: methylmalonyl Coenzyme A mutase; methylmalonyl-CoA isomerase; methylmalonyl-CoA mutase c.*192delA; methylmalonyl-CoA mutase c.*51C>G; methylmalonyl-CoA mutase variant c.1495G>A; methylmalonyl-CoA mutase variant c.2011A>G; methylmalonyl-CoA mutase variant c.2150G>T; methylmalonyl-CoA mutase variant c.322C>T; methylmalonyl-CoA mutase variant c.613_615delGAA; methylmalonyl-CoA mutase variant c.636G>A; methylmalonyl-CoA mutase variant c.643G>A; mutant methylmalonyl CoA mutase; unnamed protein product
基因别名: MCM; MUT
UniProt ID: (Human) P22033
Entrez Gene ID: (Human) 4594